Characterization of an Italian founder mutation in the RING-finger domain of BRCA1.

The identification of founder mutations in cancer predisposing genes is important to improve risk assessment in geographically defined populations, since it may provide specific targets resulting in cost-effective genetic testing. Here, we report the characterization of the BRCA1 c.190T>C (p.Cys64Ar...

وصف كامل

التفاصيل البيبلوغرافية

المؤلفون الرئيسيون:	Laura Caleca, Anna Laura Putignano, Mara Colombo, Caterina Congregati, Mohosin Sarkar, Thomas J Magliery, Carla B Ripamonti, Claudia Foglia, Bernard Peissel, Daniela Zaffaroni, Siranoush Manoukian, Carlo Tondini, Monica Barile, Valeria Pensotti, Loris Bernard, Laura Papi, Paolo Radice
التنسيق:	Artigo
اللغة:	Inglês
منشور في:	Public Library of Science (PLoS) 2014-01-01
سلاسل:	PLoS ONE
الوصول للمادة أونلاين:	https://doi.org/10.1371/journal.pone.0086924
الوسوم:	إضافة وسم لا توجد وسوم, كن أول من يضع وسما على هذه التسجيلة!